Canonical Allele Identifier: PA2499228005
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1166697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Phe1463Leu
CA8644165
NM_000088.4:c.4387T>C
CA400189789
NM_000088.4:c.4389C>G
CA400189791
NM_000088.4:c.4389C>A